Bug update

For those of you new to the blog, my son Riley, AKA Bug, has Neurofibromatosis type 1. (Also known as NF1.)

In short, Neurofibromatosis type 1 is a genetic disorder characterized by symptoms such as multiple large cafe au lait spots and axial/inguinal (armpit and groin,) freckling on the skin, tumors (called "fibromas,") on the skin, in the muscles, on the nerves, along the spine, and in the brain, vision problems, macrocephaly, cognitive delays and learning disorders, epilepsy, scoliosis, and fine and gross motor development delays.

It has manifested in Bug in that he has the cafe au lait spots, axial and inguinal freckling, one dermal fibroma (small skin tumor,) speech and motor delays, and macrocephaly, or a large head. Thus far, there have been no vision issues, signs of epilepsy, scoliosis, or severe tumors.

Today we met with his geneticist for his one-year follow-up exam. Over the course of the appointment, we discussed things such as Riley's first fibroma (on his lower back on the right,) his previous brain MRI, the course of treatment thus far, and predicted outcomes for the future.

His brain MRI showed no signs of tumors on the optic nerve (called optic glioma,) only some UBOs (Unidentified Bright Objects,) in his cerebellum, which are nothing to be concerned about and quite normal for a NF1 patient.

Doc said that he was unconcerned with the fibroma, and that there will undoubtedly be more that develop. Most "disfiguring" fibromas (Large ones on the skin, or ones deep within the muscle/running along multiple nerves,) would have already presented by now, so he feels we're "out of the woods" in that regard.

So far the course of treatment is to just sit back and monitor his development as he grows. The disease's progress is relatively chartable with his symptoms right now, as he is a "classic" case. His physician feels that he will definitely gain speech and articulation, but it may take time. (This was something that was great to hear, as his neurologist had left things very wide open, saying that he might speak, he might speak in a limited capacity, or he might never speak. Not very comforting there.) As far as the hypotonia and hyper-extension, that is something that will probably be a lifelong struggle. Having him in OT is a good thing, and letting him ride once a week is even better.

Overall, it was a good visit. It put some fears to rest and clarified a few points that we had been flailing around. (Mainly, "does he need a full-body MRI?" and "Does he really need another MRI in six months?")

I'm especially pleased to hear that there is confidence that he will begin talking. That is something that greatly stresses me out, something that I worry over almost irrationally.

So all in all, a good day!

Well check for Bug

Today was Riley's well-check, NOT March 13th like I originally thought. Oops! That's what confirmation phone calls are for, right?

Anyway, we got away vaccine free (until next year, dun dun dunnnnn...) and I'm happy to report that his growth is off the charts. No more failure to thrive for him!

We mutually agreed, though, that we think he has his first fibroma. It rose up fast and large, and I'll be doing serial photos with scale to see if it keeps growing. He also has a spot on his cheek that we're keeping an eye on.

Because she couldn't determine the nature of the possible fibroma (dermal vs. plexiform,) we're both researching when he needs a full-body MRI, and who refers for that, so that we can check for fibromas on the inside in his muscles, on his nerves, and on his spine.

He has some mild tibial bowing, but nothing that she feels needs to be seen by ortho.

I came home and cried.  I'm not going to lie to you. To have my fear confirmed, to know that the disease is progressing and so must we, is humbling. I thought we'd skate by, just dealing with the learning delays and the minor cosmetic issues.  To know that this is developing into MORE, that there is more room for it to all grow and become worse... well, it's something I already knew, but had been able to bury my head in the sand until today.

Still, though, he remains happy and healthy for the time being, and that's all that matters.  My fears cannot govern our day to day life; instead we must continue on in our pleasant existence and hope for the best.